Association of genetic polymorphisms of VAX1, MAFB, and NTN1 with nonsyndromic cleft lip with or without cleft palate in Chinese population

Li Peng; Zhenmin Niu; Jiapei Chen; Teng Wan; Dandan Wu; Yusheng Yang; Guomin Wang; Lin Yang; Wei Huang; Zhenqi Chen

doi:10.1007/s00438-022-01871-9

Association of genetic polymorphisms of VAX1, MAFB, and NTN1 with nonsyndromic cleft lip with or without cleft palate in Chinese population

Mol Genet Genomics. 2022 Mar;297(2):553-559. doi: 10.1007/s00438-022-01871-9. Epub 2022 Feb 25.

Authors

Li Peng^#¹, Zhenmin Niu^#², Jiapei Chen¹, Teng Wan³, Dandan Wu³, Yusheng Yang³, Guomin Wang³, Lin Yang⁴, Wei Huang⁵, Zhenqi Chen⁶

Affiliations

¹ Department of Orthodontics, Shanghai Key Laboratory of Stomatology, Shanghai Ninth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.
² Shanghai-MOST Key Laboratory of Health and Disease Genomics, Chinese National Human Genome Center, Shanghai Institute for Biomedical and Pharmaceutical Technologies, Shanghai, China. niuzhm@chgc.sh.cn.
³ Department of Oral and Maxillofacial Surgery, Shanghai Key Laboratory of Stomatology, Ninth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.
⁴ Shanghai-MOST Key Laboratory of Health and Disease Genomics, Chinese National Human Genome Center, Shanghai Institute for Biomedical and Pharmaceutical Technologies, Shanghai, China.
⁵ Shanghai-MOST Key Laboratory of Health and Disease Genomics, Chinese National Human Genome Center, Shanghai Institute for Biomedical and Pharmaceutical Technologies, Shanghai, China. weihuang@chgc.sh.cn.
⁶ Department of Orthodontics, Shanghai Key Laboratory of Stomatology, Shanghai Ninth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China. orthochen@yeah.net.

^# Contributed equally.

PMID: 35212839
DOI: 10.1007/s00438-022-01871-9

Abstract

Nonsyndromic cleft lip with or without palate (NSCL/P) is a common birth defect involving genetic factors. We conducted this case-control study to verify the association of ten single-nucleotide polymorphisms (SNPs) of six genes (VAX1, MAFB, PAX7, ABCA4, NTN1, and NOG) with NSCL/P in the Chinese population. The study included 249 NSCL/P patients, 62 nonsyndromic cleft palate only (NSCPO) patients and 480 controls. Three loci, namely, VAX1 rs7078160, MAFB rs11696257, and NTN1 rs4791774, were associated with NSCL/P (Bonferroni method adjusted p values were 0.020, 0.00031, and 0.030, respectively). We also found that the disease risk of individuals carrying both VAX1 rs7078160 and NTN1 rs4791774 was higher than those carrying only one of them (p = 4.50 × 10^-4 and 6.03 × 10^-3, respectively). SNPs of genes VAX1 rs7078160, MAFB rs11696257, and NTN1 rs4791774 increased NSCL/P risk in the Chinese population.

Keywords: Association study; Nonsydromic cleft lip with or without cleft palate; SNP.

MeSH terms

Case-Control Studies
China / epidemiology
Cleft Lip* / genetics
Cleft Palate* / genetics
Genetic Predisposition to Disease
Genotype
Humans
Polymorphism, Single Nucleotide / genetics

Abstract

MeSH terms

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